Utilising red cell antigen genotyping and serological phenotyping in sickle cell disease patients to risk‐stratify patients for alloimmunisation risk Journal Articles uri icon

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  • AbstractBackgroundAlloimmunisation and haemolytic transfusion reactions (HTRs) can occur in patients with sickle cell disease (SCD) despite providing phenotype‐matched red blood cell (RBC) transfusions. Variant RBC antigen gene alleles/polymorphisms can lead to discrepancies in serological phenotyping. We evaluated differences between RBC antigen genotyping and phenotyping methods and retrospectively assessed if partial antigen expression may lead to increased risk of alloimmunisation and HTRs in SCD patients at a tertiary centre in Canada.MethodsRBC antigen phenotyping and genotyping were performed by a reference laboratory on consenting SCD patients. Patient demographic, clinical and transfusion‐related data were obtained from a local transfusion registry and chart review after research ethics board approval.ResultsA total of 106 SCD patients were enrolled, and 91% (n = 96) showed additional clinically relevant genotyping information when compared to serological phenotyping alone. FY*02N.01 (FY*B GATA‐1) (n = 95; 90%) and RH variant alleles (n = 52, 49%; majority accompanied by FY*02N.01) were common, the latter with putative partial antigen expression in 25 patients. Variability in genotype‐phenotype antigen prediction occurred mostly in the Rh system, notably with the e antigen (kappa: 0.17). Fifteen (14.2%) patients had a history of alloimmunisation, with five having HTR documented; no differences in clinical outcomes were found in patients with partial antigen expression. Genotype/extended‐phenotype matching strategies may have prevented alloimmunisation events.ConclusionWe show a high frequency of variant alleles/polymorphisms in the SCD population, where genotyping may complement serological phenotyping. Genotyping SCD patients before transfusion may prevent alloimmunisation and HTRs, and knowledge of the FY*02N.01 variant allele increases feasibility of finding compatible blood.


  • Shih, Andrew W
  • Yan, Matthew TS
  • Elahie, Allahna L
  • Barty, Rebecca L
  • Liu, Yang
  • Berardi, Philip
  • Azzam, Mona
  • Siddiqui, Reda
  • Parvizian, Michael K
  • Mcdougall, Tara
  • Heddle, Nancy
  • Al‐Habsi, Khalid S
  • Goldman, Mindy
  • Cote, Jacqueline
  • Athale, Uma
  • Verhovsek, Madeleine

publication date

  • August 2020